PALB2

partner and localizer of BRCA2
OMIM: 610355
PanelMode of inheritanceDetails
13 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
breast, pancreas
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
R-numbers: R208
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast cancer, susceptibility to}, OMIM:114480
R-numbers: R207
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi anemia, complementation group N, 610832, {Breast cancer, susceptibility to}, 114480, {Pancreatic cancer, susceptibility to, 3}, 613348, High Risk Breast Cancer, Breast and Ovarian Cancer
R-numbers: R367
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pancreatic cancer, susceptibility to, 3}, OMIM:613348, Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, Radial Ray abnormality
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia, FANCN, FANCONI ANEMIA, COMPLEMENTATION GROUP N
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia, Fanconi anemia, complementation group N, 610832, {Pancreatic cancer, susceptibility to, 3}, 613348, Fanconi Anemia, {Breast cancer, susceptibility to}, 114480